A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161718



Internal ID19304416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12130217..12144467hg38UCSC Ensembl
Outerchr8:12092042..12176798hg38UCSC Ensembl
Innerchr8:11987726..12001976hg19UCSC Ensembl
Outerchr8:11949551..12034307hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3884757
hg1984757
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4036573, nssv4036566, nssv4036575, nssv4036584, nssv4036553, nssv4036559, nssv4036554, nssv4036587, nssv4036577, nssv4036585, nssv4036564, nssv4036562, nssv4036591, nssv4036571, nssv4036594, nssv4036574, nssv4036590, nssv4036572, nssv4036589, nssv4036583, nssv4036579, nssv4036578, nssv4036576, nssv4036557, nssv4036567, nssv4036556, nssv4036552, nssv4036560, nssv4036569, nssv4036565, nssv4036593, nssv4036561, nssv4036588, nssv4036558, nssv4036568, nssv4036595, nssv4036570, nssv4036580, nssv4036563, nssv4036582, nssv4036592, nssv4036586, nssv4036555, nssv4036581
Samples
Known GenesFAM66D, FAM90A2P, LOC392196, USP17L2, USP17L7, ZNF705D
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nsv1161718
Frequency
Sample Size369
Observed Gain27
Observed Loss17
Observed Complex0
Frequencyn/a


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